Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093634G>C , CM000664.2:g.176093634G>C | GRCh38 |
| NC_000002.11:g.176958362G>C , CM000664.1:g.176958362G>C | GRCh37 |
| NC_000002.10:g.176666608G>C | NCBI36 |
| NG_008137.1:g.5831G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.744G>C MANE Select | ENSP00000376322.3:p.Gln248His | |
| ENST00000392539.3:c.744G>C | ENSP00000376322.3:p.Gln248His | |
| NM_000523.3:c.744G>C | NP_000514.2:p.Gln248His | |
| XM_011511068.1:c.725-846G>C | XP_011509370.1:n.725-846G>C | |
| XM_011511068.2:c.725-846G>C | XP_011509370.1:n.725-846G>C | |
| NM_000523.4:c.744G>C MANE Select | NP_000514.2:p.Gln248His |